Together, all vascular anomalies (VAs) are related to each other, having in common abnormal development of the vascular system involving either arteries, veins, capillaries, lymphatics or in combination.
However, each individual vascular anomaly presents with unique and varying signs and symptoms. These abnormalities can result in serious medical complications that are devastating, sometimes debilitating, and life-threatening.
The patient and their family’s experience is highly unpredictable. Symptoms may include, destruction of bone that can lead to fractures, disfigurement and chronic pain, overgrowth of limbs that can cause disability, malformations causing airway obstruction, life-threatening collections of fluid around the heart, lungs and in the abdomen that may require multiple procedures, progressive loss of lung function, neurologic complications, debilitating headaches, severe infections, abnormal blood clotting that may lead to life-threatening internal bleeding and death.
Diagnosis of vascular anomalies has historically been based on outward appearance, imaging, laboratory tests, and tissue biopsy. However, biopsy is itself is dangerous, as the fragile tissues involved may easily bleed or leak lymphatic fluid internally, causing major complications.
There is a vital need for safer diagnostic methods such as blood biomarkers and cell-free DNA identification in blood and other human biospecimens such as the fluid drained from the vascular anomaly.
Due to the difficulty of diagnosis and the unfamiliarity of clinicians with these disorders, many or perhaps most cases go improperly diagnosed and treated, resulting in unnecessary procedures, and frustration and fear for patients and families. “Because vascular anomalies effects almost every part of the body a multidisciplinary team is necessary. AND, researchers should be a integral part of this team.”
While we are rare, we are everywhere located across the country and globally.
Currently, data available provides only estimates of the actual number of those living with a vascular anomaly and for some subsets of the disease this number may still be unknown.
What we do know is that vascular anomalies do not discriminate, and the incidence (how many new cases exist) and the prevalence (how many total cases exist) of vascular anomalies is unrelated to sex, age, race, ethnicity, or socioeconomic status. Vascular anomalies can affect anyone at any age and any family.
From clinical experience, there is agreement that venous malformations are the most common with an estimated incidence (new cases) of 1 to 2 in 10,000 while lymphatic malformations effect about 1 in 5000. Arteriovenous malformations affect around 0.5 in 10,000 births and some vascular anomalies like FAVA, CLOVES and some Complex Lymphatic Anomalies such as KLA and CCLA likely have an incidence of below 1 in 1 million.
As individual subsets of a specific vascular anomaly - we might appear to be small in number and we may feel alone or isolated but together, there are many of us and #TogetherWeAreStronger
Our hard-working and dedicated patient advocacy organizations or community groups offer support, advocacy and education.
While new discoveries are on the horizon and we believe cures are within reach, currently research driven initiatives are inhibited by the lack of resources available including lack of experts in the field and funding for research.
CaRAVAN firmly believes that a unified approach, bringing our vascular anomaly patients and their advocacy groups collectively together providing the PATIENT’s VOICE & EXPERIENCE, while integrating all stakeholders into the research process will dramatically improve research and decrease the time it takes for research results to become the standard of care. Patients have the power to inspire researchers and clinicians. We are… Communities together on a journey to cures.
Patients and their families may not have the scientific background to set detailed laboratory research priorities, however… all those affected play an important motivational and educational role through their enthusiasm and the sharing of their inspirational stories, and as well bring other skills to our community that complement those of the researcher and our clinicians.